behavior/neurological
N |
• no spontaneous seizures, defects in working or contextual memory, or abnormalities in olfactory responses are detected
• most phenotypes were assessed in mice with a paternally inherited allele
|
• spend more time in the open sectors of a zero maze
• however, no difference from controls was seen in a fear-conditioning contextual memory assay
|
• increase in the duration of self-grooming behaviors
|
• trend towards reduced activity in an open field test
|
• significant reduction in social interaction duration with a novel mouse in a free interaction task
• no preference for the social chamber over the nonsocial chamber in a three chamber test
|
• significantly fewer and quieter vocalizations on P6 compared to littermate controls
|
nervous system
N |
• no differences in hippocampal, striatal or cerebellar volume are detected in males at 2 months of age
• no gross structural abnormalities are detected in cerebral cortices, major brain nuclei, or dendrite morphology in the cerebral cortex or hippocampus
|
• increased brain volume in males at 2 months of age
|
• in males at 2 and 4 months of age
|
• in males at 2 months of age
|
• decrease in both evoked gamma and intratrial coherence in adult male heterozygotes compared to wild-type controls
• decrease in the amplitude of the P20 component of the auditory event related potentials
|
growth/size/body
N |
• no difference in body weight is detected at P10, 2 months or 4 months of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autism spectrum disorder | DOID:0060041 | J:227984 | ||
chromosome 15q13.3 microdeletion syndrome | DOID:0060394 |
OMIM:612001 |
J:227984 |